DEL BO, ROBERTO

DEL BO, ROBERTO  

Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti  

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Titolo Data di pubblicazione Autori Tipo File Abstract
Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study 2023 Gagliardi, DeliaMeneri, MegiDel Bo, RobertoComi, Giacomo PietroRatti, AntoniaTicozzi, NicolaSilani, VincenzoRonchi, DarioCorti, Stefania + Article (author) -
NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients 2023 Manini, AriannaGagliardi, DeliaMeneri, MegiDel Bo, RobertoComi, Giacomo PietroCorti, StefaniaRonchi, Dario + Article (author) -
Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family 2022 Gagliardi, DeliaDel Bo, RobertoMeneri, MegiComi, Giacomo PietroCorti, StefaniaRonchi, Dario + Article (author) -
Clinical and genetic features of a cohort of patients with MFN2-related neuropathy 2022 Abati E.Manini A.Del Bo R.Rizzo F.Bresolin N.Bellone E.Bassi M. T.D'Angelo M. G.Comi G. P.Corti S. + Article (author) -
Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis 2022 Manini, AriannaGagliardi, DeliaMeneri, MegiDel Bo, RobertoComi, Giacomo PietroCorti, StefaniaRonchi, Dario + Article (author) -
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired 2022 Taiana, MichelaGovoni, AlessandraSalani, SabrinaGalli, NoemiSaladini, MatteoBersani, MargheritaDel Bo, RobertoSansone, ValeriaBresolin, NereoComi, GiacomoCorti, StefaniaNizzardo, Monica + Article (author) -
Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis 2021 Ticozzi N.Silani V.Ticozzi N.Colombrita C.Comi G. P.Del Bo R.Lauria G.Corti S.Ratti A.Silani V. + Article (author) -
Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy 2020 Del Bo R.Comi G. P.Peverelli L. + Article (author) -
Syncope and autonomic failure in a middle-aged man 2018 COLOMBO, GIORGIOFrattini, EmanueleCeriani, ElisaZilocchi, MassimoDel Bo, RobertoDi Fonzo, AlessioSolbiati, Monica Article (author) -
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature 2018 Brusa, RobertaMagri, FrancescaPapadimitriou, DimitraGovoni, AlessandraDel Bo, RobertoCinnante, ClaudiaCorti, StefaniaBresolin, NereoComi, Giacomo Pietro + Article (author) -
The Italian limb girdle muscular dystrophy registry : relative frequency, clinical features, and differential diagnosis 2017 F. MagriM.G. D'AngeloS. CortiA. GovoniR. BrusaR. Del BoD. RonchiN. BresolinG.P. Comi + Article (author) -
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis 2016 N. TicozziR. Del BoG.P. ComiC. TilocaA. RattiV. Silani + Article (author) -
Mutational analysis of COQ2 in patients with MSA in Italy 2016 D. RonchiG. FrancoR. Del BoF. FortunatoL. BorelliniI. TrezziG. Monzio CompagnoniE. MonfriniE. FrattiniS. BonatoA. PrioriN. BresolinS. CortiG.P. Comi + Article (author) -
A case report with the peculiar concomitance of 2 different genetic syndromes 2016 A. LerarioI. ColomboD. MilaniL. PeverelliL. VillaR. DEL BOG.P. ComiS. Esposito + Article (author) -
Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis 2016 C. TilocaA. RattiR. Del BoG.P. ComiN. TicozziV. Silani + Article (author) -
Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons 2016 RIZZO, FEDERICAD. RonchiS. SalaniM. NizzardoF. FortunatoA. BordoniR. Del BoN. BresolinG.P. ComiS. Corti + Article (author) -
Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model 2015 M. NizzardoC. SimoneF. RizzoS. SalaniP. RinchettiR. Del BoS. DamettiN. BresolinG. ComiS. Corti + Conference Object -
Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model 2015 M. NizzardoC. SimoneF. RizzoS. SalaniS. DamettiP. RinchettiR. Del BoN. BresolinG.P. ComiS. Corti + Article (author) -
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases 2015 F. MagriI. ColomboR. Del BoR. BrusaM. ScarlatoD. RonchiM.G. D'AngeloS. CortiN. BresolinG.P. Comi + Article (author) -
TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis : identification of novel mutations 2015 C. TilocaL. CorradoC. BertolinR. DEL BOD. CaliniG. LAURIA PINTERS.P. CortiG.M.E.A. Solda'S. DugaG.P. ComiN. TicozziA. RattiV. Silani + Article (author) -